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MOD Exam 2 > (6) Diseases of Infancy and Childhood (Dobson) > Flashcards

(6) Diseases of Infancy and Childhood (Dobson) Flashcards

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1
Q

What is the neonatal period?

A

The first four weeks of life

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2
Q

What is infancy?

A

The first year of life

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3
Q

What is considered a toddler/preschooler?

A

Ages 1-4

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4
Q

What is considered a school age child?

A

Age 5-14

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5
Q

What is an exampl of a “congenital malformation/anomaly that does’t become clinically apparent until years later”?

A

Paradoxical embolism due to PFO

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6
Q

Define

Malformation

A

A malformation represents primary errors of morphogenesis

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7
Q

Define:

Disruptions

A

Result from secondary destruction of an organ or body region that was previously normal in development

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8
Q

What is a good example of a disruption?

A

Amniotic band syndrome

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9
Q

What leads to deformations?

A

Localized or generalized compression of the growing fetus by abnormal biomechanical forces

“Uterine constraint”

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10
Q

What is a sequence?

A

Cascade of abnormalities triggered by one intiating aberration

ex: rupture of amnion –> oligohydraminos (potter sequence)

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11
Q

Define:

Agenesis

A

Complete absence of an organ

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12
Q

Define:

Aplasia

A

Absence of an organ, but from failure of the preexisting premordium

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13
Q

Define

Atresia

A

Absence of an opening (of a hollow visceral organ)

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14
Q

What does this child likely have?

A

Fetal Alcohol Syndrome Disorder

NO PHILTRUM

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15
Q

When is the window of time where most congenital anomalies occur?

A

Between weeks 3-8

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16
Q

How is prematurity defined?

A

Gestational age less than 37 weeks

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17
Q

What are the time frames for:

Extremely preterm

Very preterm

Moderate to late preterm

A

Extremely preterm : less than 28 weeks

Very preterm : 28-32 weeks

Moderate to late preterm : 32 - 37 weeks

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18
Q

What are the risk factors for prematurity?

A
  • PPROM (preterm premature rupture of membranes)
  • Intrauterine infection
  • Uterus/cervix/placental abnormalities
  • Multiple gestation
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19
Q

What are the major hazards of prematurity?

A

RDS

NEC

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20
Q

What are the clinical manifestations of respiratory distress syndrome?

A
  • Peripheral cyanosis
  • Ground glass infiltrates
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21
Q

What is the pathogenesis of RDS?

A

Deficiency of pulmonary surfactant

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22
Q

What are the primary genes involved in a genetic respiratory distress syndrome?

A

SFTPB

SFTBC

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23
Q

What is this a typical presentation of?

A

Necrotizing enterocolitis (NEC)

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24
Q

What is fetal hydrops?

A

The accumulation of edema fluid in two or more fetal compartments during intrauterine growth

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25
What is this?
Erythroblastosis fetalis
26
What are the three major etiologies of **non-immune hydrops?**
1. Cardiovascular defects 2. Chromosomal anomalies 3. Fetal anemia
27
# Define the tumor-like category: Heterotopia
Normal cells in abnormal location
28
# Define the tumor-like category: Hamartoma
Excessive focal overgrowth of tissue native to the organ
29
What is the most common tumor of infancy?
Capillary hemangiomas
30
What is the most common **extracranial solid tumor** of childhood?
Neuroblastoma
31
List the time frames/spans for infant and childhood development
Neonatal period (1st 4 weeks) Infancy (1st year of life) Toddler/Preschool (age 1-4) School age (5-14)
32
Recognize the top three primary causes of death: Younger than 1 year
Congenital malformations Premature SIDS
33
Recognize the top causes of death: 1-4 years old
Congenital malformations/deformations/chromosomal abnormalities Malignant neoplasms
34
Recognize the top three primary causes of death: 5-9 y/o
Malignant neoplasms Congenital malformations/deformations/chromosomal abnormalities Influenza and pneumonia
35
Recognize the primary causes of death: 10-14y/o
Malignant neoplasms Congenital malformations/deformations/chromosomal anomalies
36
What is a **malformation?** give an example.
Primary errors of **morphogenesis,** an intrinsically abnormal developmental process Congenital heart defects, anencephaly
37
What is a **disruption?** give an example.
Results from **secondary destruction** of an organ or body region (was previously normal) arise from extrinsic disturbance in morphogenesis Amniotic bands \*NOTE: Disruptions are NOT heritable
38
What is a **deformation**? give an example.
Extrinsic disturbance of development -- abnormal biochemical forces Uterine constraint, fetal placental factors
39
What is a **sequence?** give an example.
A cascade of abnormalities triggered by one intitiating aberration Rupture of the amnion--\> Oligohydraminos (potter sequence)
40
What are the three major categories of congenital anomalies?
Genetic Enviornmental Multifactorial
41
What are the two prinicples affecting the pathogenesis of congenital anomalies?
1) Timing of the prenatal teratogenic insult 2) Features of dysmorphogenesis caused by enviornmental insults can often be recapitulated by genetic defects in the pathways targed by these teratogens
42
Describe the teratogenic effects of: **Cyclopamine**
Affects the **SHH pathway** (Cyclops, craniofacial abnormalities)
43
Describe the teratogenic effects of: **Valproic acid**
Affects **HOX genes**
44
Describe the teratogenic effects of: **ATRA**
TGF-beta pathway (Causes cleft lip, palatte)
45
What major organs BEGIN developing at weeks... 3 : 4 : 7 :
Week 3 : Heart, CNS Week 4: Arms, Legs, Eyes 7: External genetalia "lucky junk"
46
What is **fetal growth restriction (FGR)?**
Term infants who weigh too little for their gestational age
47
What are **fetal influences** that can induce fetal growth restriction (**FGR)?**
Influences that intrinsically reduce growth potential of the fetus even though there is adequate supply of nutrients EXAMPLE : **TORCH group of infections** (Toxoplasmosis, rubella, cytomegalovirus, herpes)
48
What are **placental influences** that can induce fetal growth restriction (FGR)?
Uteroplacental insufficiency
49
What are **maternal influences** that can induce fetal growth restriction (FGR)?
Preclampsia Chronic hypertension Thrombophilias Narcotic and alcohol abuse
50
Describe **respiratory distress syndrome (RDS)** Mechanism: Clinical signs:
Mechanism: not enough surfactant Clinical signs: Cyanosis, Ground-glass picture chest ex-ray
51
Necrotizing enterocolitis (NEC) Most common in? Pathogenesis? Clinical manifestations?
Premature infants Multifactorial pathogenesis Bloody stools, abdominal distention, circulatory collapse, gas in intestinal wall
52
What is **fetal hydrops?**
Accumulation of edema fluid in the fetus during intrauterine growth
53
What is **immune hydrops?**
Hemolytic disease w/ blood group ag incompatibility b/w mother and fetus
54
What is **nonimmune hydrops?**
NIH Causes include: Turner syndrome, transplacental infections
55
What are the two primary routes which **perinatal infections** are aquired?
Transvervical Transplacental (most are parasitic)
56
What are the clinical features of **PKU?**
Not able to walk/talk MUSTY ORDOR TO URINE
57
Describe **galactosemia**
Buildup of galactiol and galactonate in the tissues Problems with the **LIVER, EYES, BRAIN** kids have AMINOACIDURIA
58
What is the incidence of cystic fibrosis?
1 : 2500 live births Common in caucasian populations Carrier frequency is 1 : 20
59
What is the gene that is affected with CF?
CFTR gene 7q31.2
60
What is the difference b/w SIDS and SUID?
SIDS = "sudden infant death syndrome" sudden death of infant under 1 year of age (dies in sleep - crib death) SUID = "sudden unexplained infant death" the sudden death from an unexpected anatomic or biochemical basis
61
What are the risk factors associated with SIDS?
Parental = young maternal age (\<20), drug abuse, smoking, AA or american indian ethnicity Infant = prematurity, brain stem abnormalities, SIDS in prior sibling Enviornment = prone or LR positon, sleeping on soft surface

MOD Exam 2 (9 decks)

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